Testicular adrenal rest tumors - Epidemiology, diagnosis and treatment.

INTRODUCTION: Testicular adrenal rest tumors (TART) are common in males suffering from congenital adrenal hyperplasia (CAH). Correct and timely diagnosis is important for differential diagnosis with malignant testis tumors, related infertility and as TART may worsen in time, especially in the absence of adequate and continuous hormonal control. The rarity of the disease, predominance of small cohorts and case reports and research heterogeneity (concerning type of CAH, patients' age and specific focus of the paper) complicate the understanding of this condition. OBJECTIVES: To review epidemiological and clinical aspects of TART, including treatment and prognosis. METHODS: Non-systematic review of CAH-related TART research. RESULTS: TART's prevalence grows progressively over time, predominating after puberty, affecting a mean of 20-40 % of CAH males. There is no proof of more frequent proportional affection of specific CAH phenotypes or types of enzyme deficiency, but cases of TART among non-classic CAH patients have been rarely reported. Chronic undertreated are more frequently affected and present larger tumors. Systematic ultrasound screening of CAH males is the state-of-the art for diagnosis, but TART are still often diagnosed in CAH adults seeking infertility treatment. TART are usually asymptomatic and present normal testicular volume. Biopsies are not recommended, except when the differential diagnosis between TART and testicular tumors cannot be guaranteed. Abnormal semen analysis is common. Leydig cell tumors are the main differential diagnosis, due to histological similarities to TART. Misdiagnosis may lead to unnecessary orchiectomies. Preservation of gonadal functions is inversely proportional to the total tumor volume. Tumors tend to regress under adequate adrenal suppression with steroids. Surgery in not indicated to treat TART. DISCUSSION: The reported prevalence of TART depends on age, usage of systematic follow-up ultrasound, and adequate CAH control. Timely detection of the disease is important to avoid irreversible gonadal dysfunction (not clinically apparent, due to high serum levels of androgen) and infertility. The relationship between TART and specific CAH phenotypes/genotypes has not been proved, and some cases do not present abnormal serum ACTH levels. Knowledge about TART should be disseminated among non-experts, to avoid unnecessary orchiectomies and false diagnosis of malignant testis tumors. Infertility is frequent, but has not been not satisfactorily addressed by physicians, even among experts. Sperm cryopreservation should be early offered to CAH adult males, but there are offer problems related to high cost.

[How much does a specialized medical consultation cost for families of pediatric patients in the Brazilian Unified National Health System?] / Quanto custa uma consulta médica especializada para as famílias de pacientes pediátricos no Sistema Único de Saúde?

In this study, we investigated the costs of transportation for each outpatient consultation in patients referred to specialized surgical evaluation in a tertiary hospital in Rio de Janeiro, Brazil. Descriptive study with guardians of pediatric patients scheduled for pediatric surgery, questioning transportation cost, and opportunity costs (loss of remuneration, food, payment of caregivers for other children, expenses for other companions). About half patients were aged up to five years; about two thirds had diseases of simple and definitive surgical resolution; and 181 families (89.17%) presented monthly family income up to BRL 1,999.00. The proportion of families that benefited from free transportation ranged from 4.26% to 15.56% for patients living up to 100 km away from the hospital (45.83% for patients living more than 100 km away from the institution). A total of 176 (87.13%) guardians reported expenses buying food, 12 (5.94%) paid caregivers to the other children on the day of the consultation, and 80 (39.6%) reported loss of remuneration for the working day. Among the high complexity cases, 9.33% of the mothers have given up their regular paid employment. Transportation expenses for a pediatric surgery consultation at a reference hospital in Rio de Janeiro cost about 4.42% of the current minimum wage, spending around 217.32 minutes of displacement/consultation. Expenses with food and loss of remuneration due to absence at work also entail significant financial charges or loss of remuneration for the patient at each consultation.

Nesta pesquisa, estudamos os custos de transporte por consulta ambulatorial em pacientes referenciados para avaliação cirúrgica especializada em um hospital terciário no Rio de Janeiro, Brasil. Trata-se de um estudo descritivo com responsáveis por pacientes pediátricos agendados para consulta de cirurgia pediátrica, questionando fatores ligados ao custo de transporte e de oportunidade (perda de remuneração, alimentação, pagamento de cuidadores para outros filhos, despesas para outros acompanhantes). Aproximadamente metade dos pacientes tinham até 5 anos de idade, cerca de 2/3 apresentavam doenças de resolutividade cirúrgica simples e definitiva e 181 famílias (89,17%) contavam com renda familiar mensal de até R$ 1.999,00. A proporção de famílias beneficiadas por transporte gratuito variou entre 4,26-15,56% para pacientes morando até 100km de distância do hospital (45,83% para pacientes com residência a mais de 100km da instituição). Dos responsáveis, 176 (87,13%) relataram despesas para alimentação, 12 (5,94%) pagavam cuidadores para os outros filhos no dia da consulta e 80 (39,6%) referiram perda do pagamento do dia de trabalho. Dos casos de alta complexidade, 9,33% das mães entrevistadas abriram mão de exercer atividade remunerada regular. As despesas com transporte para uma consulta em cirurgia pediátrica em um hospital de referência do Rio de Janeiro custam em média 4,42% do salário mínimo vigente, com uma média de 217,32 minutos de deslocamento por consulta. Despesas com alimentação e perda de remuneração pela ausência no trabalho também implicam encargos financeiros ou perda de remuneração significativos para o paciente em cada consulta.

En esta investigación se estudiaron los costes de transporte por visita ambulatoria en pacientes remitidos para evaluación quirúrgica especializada en un hospital de atención terciaria en Río de Janeiro, Brasil. Es un estudio descriptivo con responsables de pacientes pediátricos programados para consulta de cirugía pediátrica, en el que se cuestionaron factores relacionados con el coste del transporte y los costes de oportunidad (pérdida de remuneración, alimentación, pago de cuidadores de otros niños, gastos de otros cuidadores). Aproximadamente la mitad de los pacientes tenían hasta 5 años de edad; cerca de 2/3 presentaban enfermedades de resolución quirúrgica simple y definitiva, 181 familias (89,17%) con renta familiar mensual de hasta BRL 1.999,00. La proporción de familias que se benefician de transporte gratuito varía entre el 4,26% y el 15,56% para los pacientes que viven hasta a 100 km del hospital (45,83% para los pacientes que viven a más de 100 km de la institución). Ciento setenta y seis (87,13%) cuidadores declaran gastos de alimentación, 12 (5,94%) pagan a los cuidadores de sus otros hijos en el día de la consulta y 80 (39,6%) declaran pérdida de salario por la jornada laboral. De los casos de alta complejidad, el 9,33% de las madres entrevistadas habían abandonado su actividad remunerada habitual. Los gastos de transporte para una consulta de cirugía pediátrica en un hospital de referencia de Río de Janeiro cuestan de media el 4,42% del salario mínimo vigente, con una media de 217,32 minutos de tiempo de viaje/consulta. Los gastos de alimentación y la pérdida de salario por ausencia en el trabajo también implican una importante carga económica o pérdida de salario para el paciente en cada cita.

Quanto custa uma consulta médica especializada para as famílias de pacientes pediátricos no Sistema Único de Saúde? / How much does a specialized medical consultation cost for families of pediatric patients in the Brazilian Unified National Health System? / ¿Cuánto cuesta una consulta médica especializada para las familias de pacientes pediátricos en el Sistema Único de Salud brasileño?

Nesta pesquisa, estudamos os custos de transporte por consulta ambulatorial em pacientes referenciados para avaliação cirúrgica especializada em um hospital terciário no Rio de Janeiro, Brasil. Trata-se de um estudo descritivo com responsáveis por pacientes pediátricos agendados para consulta de cirurgia pediátrica, questionando fatores ligados ao custo de transporte e de oportunidade (perda de remuneração, alimentação, pagamento de cuidadores para outros filhos, despesas para outros acompanhantes). Aproximadamente metade dos pacientes tinham até 5 anos de idade, cerca de 2/3 apresentavam doenças de resolutividade cirúrgica simples e definitiva e 181 famílias (89,17%) contavam com renda familiar mensal de até R$ 1.999,00. A proporção de famílias beneficiadas por transporte gratuito variou entre 4,26-15,56% para pacientes morando até 100km de distância do hospital (45,83% para pacientes com residência a mais de 100km da instituição). Dos responsáveis, 176 (87,13%) relataram despesas para alimentação, 12 (5,94%) pagavam cuidadores para os outros filhos no dia da consulta e 80 (39,6%) referiram perda do pagamento do dia de trabalho. Dos casos de alta complexidade, 9,33% das mães entrevistadas abriram mão de exercer atividade remunerada regular. As despesas com transporte para uma consulta em cirurgia pediátrica em um hospital de referência do Rio de Janeiro custam em média 4,42% do salário mínimo vigente, com uma média de 217,32 minutos de deslocamento por consulta. Despesas com alimentação e perda de remuneração pela ausência no trabalho também implicam encargos financeiros ou perda de remuneração significativos para o paciente em cada consulta.

In this study, we investigated the costs of transportation for each outpatient consultation in patients referred to specialized surgical evaluation in a tertiary hospital in Rio de Janeiro, Brazil. Descriptive study with guardians of pediatric patients scheduled for pediatric surgery, questioning transportation cost, and opportunity costs (loss of remuneration, food, payment of caregivers for other children, expenses for other companions). About half patients were aged up to five years; about two thirds had diseases of simple and definitive surgical resolution; and 181 families (89.17%) presented monthly family income up to BRL 1,999.00. The proportion of families that benefited from free transportation ranged from 4.26% to 15.56% for patients living up to 100 km away from the hospital (45.83% for patients living more than 100 km away from the institution). A total of 176 (87.13%) guardians reported expenses buying food, 12 (5.94%) paid caregivers to the other children on the day of the consultation, and 80 (39.6%) reported loss of remuneration for the working day. Among the high complexity cases, 9.33% of the mothers have given up their regular paid employment. Transportation expenses for a pediatric surgery consultation at a reference hospital in Rio de Janeiro cost about 4.42% of the current minimum wage, spending around 217.32 minutes of displacement/consultation. Expenses with food and loss of remuneration due to absence at work also entail significant financial charges or loss of remuneration for the patient at each consultation.

En esta investigación se estudiaron los costes de transporte por visita ambulatoria en pacientes remitidos para evaluación quirúrgica especializada en un hospital de atención terciaria en Río de Janeiro, Brasil. Es un estudio descriptivo con responsables de pacientes pediátricos programados para consulta de cirugía pediátrica, en el que se cuestionaron factores relacionados con el coste del transporte y los costes de oportunidad (pérdida de remuneración, alimentación, pago de cuidadores de otros niños, gastos de otros cuidadores). Aproximadamente la mitad de los pacientes tenían hasta 5 años de edad; cerca de 2/3 presentaban enfermedades de resolución quirúrgica simple y definitiva, 181 familias (89,17%) con renta familiar mensual de hasta BRL 1.999,00. La proporción de familias que se benefician de transporte gratuito varía entre el 4,26% y el 15,56% para los pacientes que viven hasta a 100 km del hospital (45,83% para los pacientes que viven a más de 100 km de la institución). Ciento setenta y seis (87,13%) cuidadores declaran gastos de alimentación, 12 (5,94%) pagan a los cuidadores de sus otros hijos en el día de la consulta y 80 (39,6%) declaran pérdida de salario por la jornada laboral. De los casos de alta complejidad, el 9,33% de las madres entrevistadas habían abandonado su actividad remunerada habitual. Los gastos de transporte para una consulta de cirugía pediátrica en un hospital de referencia de Río de Janeiro cuestan de media el 4,42% del salario mínimo vigente, con una media de 217,32 minutos de tiempo de viaje/consulta. Los gastos de alimentación y la pérdida de salario por ausencia en el trabajo también implican una importante carga económica o pérdida de salario para el paciente en cada cita.

Frequency of lichen sclerosus in children presenting with phimosis: A systematic histological study.

BACKGROUND: The incidence of preputial lichen sclerosus (PLS) among children presenting with phimosis varies from 10 to 95%, depending on the age, the protocol for the treatment of pediatric phimosis, the method of diagnosis (clinical versus histological), and case mix (congenital versus acquired phimosis). OBJECTIVE: PLS may not be clinically obvious. Our aim is to show that a systematic histological examination of the prepuce may diagnose PLS in clinically unsuspected cases. METHODS: Prospective observational study of the histology of all prepuces resected from boys undergoing circumcision for phimosis but not clinically suspected to have PLS. RESULTS: PLS was diagnosed histologically in 22 boys (32%). Boys with PLS were significantly older (mean 8.4 versus 4.7 years old). Diagnosis of PLS was not related to the degree of phimosis (summary figure). In three patients (grade 4 phimosis) glans discoloration was observed during surgery, and all had PLS. Follow up for boys found to have PLS ranged from 1 to 10 years. One patient developed recurrent phimosis, attributed to inappropriate conservative resection, and required further surgery. There were no cases of meatal stenosis. DISCUSSION: Subtle cases of PLS may be difficult to detect clinically. Children are frequently asymptomatic, except for being unable to retract the prepuce. Physical examination has a low negative predictive value for the diagnosis of PLS. Complete removal of the prepuce with permanent glans exposure is regarded as essential to cure PLS and to avoid recurrent phimosis, but our patients were treated with partial circumcisions for cultural reasons. Only one needed reoperation for recurrent phimosis. CONCLUSION: Histological PLS was present in approximately 1/3 of boys with phimosis, frequently without typical manifestations. Those patients may be cured with partial circumcisions.

Bladder exstrophy: We need to improve. A lot.

INTRODUCTION: Bladder exstrophy (BE) affects continence and sexual function, impacting on social life and mental health. Long-term data from the patients' point of view are needed to get a real-life perspective on the problem. STUDY DESIGN: A self-developed questionnaire concerning sexual, psychosexual and psychosocial outcomes was sent to the adult members of the Brazilian Exstrophy Group. RESULTS: Fifty out of 67 adults from the group (74.5%) responded to the questionnaire. Failure of initial bladder closure attained 62%. Almost ¾ of the patients had augmentation cystoplasty. Bladder lithiasis was common. Esthetic procedures were frequently done. Repetitive UTI (n = 32, 64%) and kidney scars/disease (n = 20, 40%) were frequent. Most (88%) patients either depend on CIC or remain incontinent. Sexual problems predominated in males. Surgery for continence often failed, requiring re-operations, but the prognosis without these procedures was comparatively worse. Continent patients underwent more surgeries (mean 18, 13 and 9 procedures in continent, imperfectly continent and incontinent patients, respectively). Augmented patients more frequently achieved dryness (p = 0.0035). Two-thirds of the women underwent vaginoplasties, but dyspareunia/feeling of "tight" vagina still affected a quarter of them. Four women (15.4%) delivered healthy children. 91.7% of the males reported "normal" erections, but sexual inhibition was common due to feeling of having a small penis (n = 18, 75%). Persistent dorsal curvature and abnormal ejaculation were common (58.3% and 77.1%, respectively). Patients' comments related mainly to mental health issues/need for specialized care, limitations of medicine to cure/treat their disease, unavailability of experts, especially adult specialists, embarrassment over deformities and insufficient information about disease/treatment/prognosis. DISCUSSION: Most BE patients are well-integrated into society, but feelings of sadness and low self-esteem are common. Most welcome procedures to become dry, despite self-catheterization. The results of bladder neck reconstruction are far from perfect, despite multiple attempts and bladder augmentation was often necessary. Volitional voiding is uncommon. Sexual problems are worse for males, and sexual avoidance is common. Sexual function and self-image are inter-related. It seems reasonable to offer selective esthetic procedures to improve social/sexual interaction. Obstetric complications are common, especially UTI, need for ureteral and/or conduit stenting, abnormal fetal positioning, uterine prolapse, technical problems during surgical deliveries and prematurity. CONCLUSION: Continence/dryness in BE was mostly eventually achieved, usually depending on multiple interventions, bladder augmentation and self-catheterization. Despite multiple surgeries many adults remain incontinent. Sexual problems and avoidance are the rule in males, due to the feelings of penile inadequacy. Pregnant females deserve expert obstetric care.

Post-tracheostomy tracheoinnominate fistula: endovascular treatment / Fístula traqueoinominada pós-traqueostomia: tratamento endovascular

ABSTRACT Objective: Tracheoinnominate fistula (TIF) is a rare and frequently lethal complication of tracheostomies. Immediate bleeding control and surgical treatment are essential to avoid death. This report describes the successful endovascular treatment of TIF in a preschooler and reviews the literature concerning epidemiology, diagnosis, prophylaxis, and treatment of TIF in pediatric patients. Case description: A tracheostomized neurologically impaired bed-ridden three-year-old girl was admitted to treat an episode of tracheitis. Tracheostomy had been performed two years before. The child used a plastic cuffed tube continually inflated at low pressure. The patient presented two self-limited bleeding episodes through the tracheostomy in a 48h interval. A new episode was suggestive of arterial bleeding, immediately leading to a provisional diagnosis of TIF, which was confirmed by angiotomography, affecting the bifurcation of the innominate artery and the right tracheal wall. The patient was immediately treated by the endovascular placement of polytetrafluoroethylene (PTFE)/nitinol stents in Y configuration. No recurrent TIF, neurological problems, or right arm ischemia have been detected in the follow-up. Comments: TIF must be suspected after any significant bleeding from the tracheostoma. Endovascular techniques may provide rapid bleeding control with low morbidity, but they are limited to a few case reports in pediatric patients, all of them addressing adolescents. Long-term follow-up is needed to detect whether stent-related vascular complications will occur with growth.

RESUMO Objetivo: As fístulas traqueoinominadas (TIF) são complicações raras e frequentemente letais das traqueostomias (TQT). Controle imediato do sangramento e tratamento cirúrgico são essenciais para evitar a morte. Este trabalho relata o tratamento endovascular bem-sucedido de uma TIF em um pré-escolar e revisa a literatura a respeito da epidemiologia, profilaxia, diagnóstico e tratamento de TIF em pacientes pediátricos. Descrição do caso: Uma criança de 3 anos de idade, com encefalopatia, restrita ao leito e traqueostomizada havia dois anos foi internada para tratar um episódio de traqueíte. A criança usava uma cânula plástica balonada continuamente inflada com baixa pressão. A paciente apresentou dois episódios autolimitados de sangramento pela traqueostomia em um intervalo de 48 horas. Um novo episódio foi sugestivo de sangramento arterial e assumiu-se o diagnóstico provisório de TIF, confirmado através de angiotomografia, atingindo a bifurcação da artéria inominada e a parede direita da traqueia. A paciente foi imediatamente tratada pela inserção endovascular de um enxerto de politetrafluoroetileno (PTFE)/nitinol em "Y". No seguimento, não foram encontradas recorrência de TIF, sequelas neurológicas ou isquemia do braço direito. Comentários: Deve-se suspeitar de TIF sempre que houver um sangramento significativo pelo traqueoestoma. Técnicas endovasculares possibilitam o rápido controle do sangramento com baixa morbidade, mas estão limitadas a poucos relatos de caso e pacientes pediátricos, sendo todos em adolescentes. O seguimento a longo prazo é necessário para avaliar se ocorrem complicações vasculares dos stents com o crescimento.

Post-tracheostomy tracheoinnominate fistula: endovascular treatment.

OBJECTIVE: Tracheoinnominate fistula (TIF) is a rare and frequently lethal complication of tracheostomies. Immediate bleeding control and surgical treatment are essential to avoid death. This report describes the successful endovascular treatment of TIF in a preschooler and reviews the literature concerning epidemiology, diagnosis, prophylaxis, and treatment of TIF in pediatric patients. CASE DESCRIPTION: A tracheostomized neurologically impaired bed-ridden three-year-old girl was admitted to treat an episode of tracheitis. Tracheostomy had been performed two years before. The child used a plastic cuffed tube continually inflated at low pressure. The patient presented two self-limited bleeding episodes through the tracheostomy in a 48h interval. A new episode was suggestive of arterial bleeding, immediately leading to a provisional diagnosis of TIF, which was confirmed by angiotomography, affecting the bifurcation of the innominate artery and the right tracheal wall. The patient was immediately treated by the endovascular placement of polytetrafluoroethylene (PTFE)/nitinol stents in Y configuration. No recurrent TIF, neurological problems, or right arm ischemia have been detected in the follow-up. COMMENTS: TIF must be suspected after any significant bleeding from the tracheostoma. Endovascular techniques may provide rapid bleeding control with low morbidity, but they are limited to a few case reports in pediatric patients, all of them addressing adolescents. Long-term follow-up is needed to detect whether stent-related vascular complications will occur with growth.